Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

ABSTRACT:

Purpose

To devise a comprehensive multiplatform genetic testing strategy for inherited retinal disease and to describe its performance in 1000 consecutive families seen by a single clinician.

Design

Retrospective series.

Participants

One thousand consecutive families seen by a single clinician.

Methods

The clinical records of all patients seen by a single retina specialist between January 2010 and June 2016 were reviewed, and all patients who met the clinical criteria for a diagnosis of inherited retinal disease were included in the study. Each patient was assigned to 1 of 62 diagnostic categories, and this clinical diagnosis was used to define the scope and order of the molecular investigations that were performed. The number of nucleotides evaluated in a give

SUBMITTER: Stone EM 

PROVIDER: S-EPMC5565704 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature